22 J Clin Res Pediatr Endocrinol 2017;9(Supplement 1):1-31 gene mutations (4 missense: p.T93M, p.R352W, p.Y432C, p.E448K; 2 nonsense: p.W151X, p.Q259X; and one splice site: c.831+1G>C) were detected. p.T93M was the most frequent (57% of all alleles) mutation. Two of the seven mutations (p.Q259X, c.831+1G>C) were defined for the first time in this study. This study defines the mutation spectrum and genotype phenotype correlation of DHCR7 gene within the Turkish SLOS patients. As seen in other Mediterranean populations, p.T93M mutation was the most frequent mutation observed in our patients. (P-55) Anthropometric Measurements and Complications of Achondroplasia Patients Esra Işık 1 , Şükran Darcan 2 , Ayşenur Kavasoğlu 3 , Tahir Atik 1 , Hüseyin Onay 3 , Damla Gökşen Şimşek 2 , Asude Durmaz 3 , Ayça Aykut 3 , Özgür Çoğulu 1 , Ferda Özkınay 1 1 Ege University Faculty of Medicine, Division of Pediatric Genetics, İzmir, Turkey 2 Ege University Faculty of Medicine, Division of Pediatric Endocrinology, İzmir, Turkey 3 Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey Achondroplasia is the most common reason of inherited disproportionate short statue. It is caused by mutations in the FGFR3 (fibroblast growth factor receptor-3) gene. In this study, we aimed to evaluate the anthropometric measurements and complications in achondroplasia patients. In this study, using Sanger sequencing or next-generation sequence analysis, FGFR3 gene mutations were detected in 29 patients (achondroplasia/hypochondroplasia: 15/14) between 2012 and 2016. Nine of the 15 achondroplasia patients and one of the 14 hypochondroplasia patients had been followed by both Pediatric Genetics and Pediatric Endocrinology Subdivisions of Ege University Medical Faculty. Fifty percent of patients were female and 50% were male. Median age was 27 months (min 9-max 96 months). Anthropometric measurements of the patients were found to be in normal ranges using growth curves specific for achondroplasia patients reported by Horton et al. When evaluated according to normal growth curves, mean standard deviations of height, weight, and head circumference were -4.45 (±1.59), -1.38 (±1.15), and 1.99 (±1.20), respectively. In one patient, foramen magnum stenosis and cervicospinal junction compression were observed. Another patient had mental retardation and epilepsy. It has been considered that growth of achondroplasia patients can be maintained in the limits of achondroplasia patients when appropriate follow-up is performed. They should be carefully evaluated for neurological and orthopedic complications. (P-56) Mutation Spectrum of GCK, HNF1A, and HNF1B in MODY Patients and 40 Novel Mutations Ferda Özkınay, Esra Işık, Damla Gökşen Şimsek, Ayça Aykut, Emin Karaca, Samim Özen, Hilmi Bolat, Tahir Atik, Hüseyin Onay Ege University Faculty of Medicine, Division of Pediatric Genetics, İzmir, Turkey MODY (maturity onset diabetes of the young) is a monogenic diabetes mellitus caused by pancreatic beta cell dysfunction. It has been classified into 9 groups according to the underlying molecular etiology. Mutations in the genes encoding the nuclear transcription factor 1 homeobox A (HNF1A) and the enzyme glucokinase (GCK) are the most common causes of MODY. Additionally, HNF1B gene is responsible for 5% of the disease. The aim of this study was to investigate the mutation spectrum of GCK, HNF1A, and HNF1B genes in MODY patients. Molecular test results of 152 patients carrying mutations in GCK, HNF1A, or HNF1B genes were evaluated. Rate of mutations detected in GCKL, HNF1A, and HNF1B genes were 84%, 13%, and 3%, respectively. Fifty-seven different mutations (40 missense, 8 nonsense, 7 frameshift, 1 in-frame deletion, and one splice site) in GCK, 15 different mutations (11 missense, 3 frameshift, and one 3’ UTR) in HNF1A and 4 different mutations (2 missense, one frameshift, and one indel) in HNF1B were found. Thirty-tree, 5, and 2 mutations were detected as novel mutations in GCK, HNF1A, and HNF1B genes, respectively. Definition of molecular etiology in MODY patients is important for giving appropriate genetic counseling and disease management. The most commonly affected gene has been found to be GCK gene among the MODY patients studied. In the genes GCK, HNF1A, and HNF1B, 40 mutations have been defined for the first time in this study. (P-57) MEN 2A Family Zafer Pekkolay, Hikmet Soylu, Belma Özlem Tural Balsak, Mehmet Güven, Alpaslan Kemal Tuzcu Dicle University Faculty of Medicine, Department of Adult Endocrinology, Diyarbakır, Turkey MEN 2 is a rare genetic disorder with autosomal dominant inheritance. Here, we present a family in which MEN2A was detected in the index case and two brothers had detected pheochromocytoma and medullary thyroid cancer. MEN 2A index case; Index case: A thirty-six-year-old male patient presented with headache, sweating, and palpitations. Urine catecholamines
Anthropometric Measurements and Complications of Achondroplasia Patients
Aug 29, 2022
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J Clin Res Pediatr Endocrinol 2017;9(Supplement 1):1-31
gene mutations (4 missense: p.T93M, p.R352W, p.Y432C, p.E448K; 2 nonsense: p.W151X, p.Q259X; and one splice site: c.831+1G>C) were detected. p.T93M was the most frequent (57% of all alleles) mutation. Two of the seven mutations (p.Q259X, c.831+1G>C) were defined for the first time in this study.
This study defines the mutation spectrum and genotype phenotype correlation of DHCR7 gene within the Turkish SLOS patients. As seen in other Mediterranean populations, p.T93M mutation was the most frequent mutation observed in our patients.
(P-55)
Esra Ik1, ükran Darcan2, Ayenur Kavasolu3, Tahir Atik1, Hüseyin Onay3, Damla Göken imek2, Asude Durmaz3, Ayça Aykut3, Özgür Çoulu1, Ferda Özknay1
1Ege University Faculty of Medicine, Division of Pediatric Genetics, zmir, Turkey
2Ege University Faculty of Medicine, Division of Pediatric Endocrinology, zmir, Turkey
3Ege University Faculty of Medicine, Department of Medical Genetics, zmir, Turkey
Achondroplasia is the most common reason of inherited disproportionate short statue. It is caused by mutations in the FGFR3 (fibroblast growth factor receptor-3) gene. In this study, we aimed to evaluate the anthropometric measurements and complications in achondroplasia patients.
In this study, using Sanger sequencing or next-generation sequence analysis, FGFR3 gene mutations were detected in 29 patients (achondroplasia/hypochondroplasia: 15/14) between 2012 and 2016. Nine of the 15 achondroplasia patients and one of the 14 hypochondroplasia patients had been followed by both Pediatric Genetics and Pediatric Endocrinology Subdivisions of Ege University Medical Faculty. Fifty percent of patients were female and 50% were male. Median age was 27 months (min 9-max 96 months). Anthropometric measurements of the patients were found to be in normal ranges using growth curves specific for achondroplasia patients reported by Horton et al. When evaluated according to normal growth curves, mean standard deviations of height, weight, and head circumference were -4.45 (±1.59), -1.38 (±1.15), and 1.99 (±1.20), respectively. In one patient, foramen magnum stenosis and cervicospinal junction compression were observed. Another patient had mental retardation and epilepsy.
It has been considered that growth of achondroplasia patients can be maintained in the limits of achondroplasia patients when appropriate follow-up is performed. They should be carefully evaluated for neurological and orthopedic complications.
(P-56)
Mutation Spectrum of GCK, HNF1A, and HNF1B in MODY Patients and 40 Novel Mutations
Ferda Özknay, Esra Ik, Damla Göken imsek, Ayça Aykut, Emin Karaca, Samim Özen, Hilmi Bolat, Tahir Atik, Hüseyin Onay
Ege University Faculty of Medicine, Division of Pediatric Genetics, zmir, Turkey
MODY (maturity onset diabetes of the young) is a monogenic diabetes mellitus caused by pancreatic beta cell dysfunction. It has been classified into 9 groups according to the underlying molecular etiology. Mutations in the genes encoding the nuclear transcription factor 1 homeobox A (HNF1A) and the enzyme glucokinase (GCK) are the most common causes of MODY. Additionally, HNF1B gene is responsible for 5% of the disease. The aim of this study was to investigate the mutation spectrum of GCK, HNF1A, and HNF1B genes in MODY patients.
Molecular test results of 152 patients carrying mutations in GCK, HNF1A, or HNF1B genes were evaluated. Rate of mutations detected in GCKL, HNF1A, and HNF1B genes were 84%, 13%, and 3%, respectively. Fifty-seven different mutations (40 missense, 8 nonsense, 7 frameshift, 1 in-frame deletion, and one splice site) in GCK, 15 different mutations (11 missense, 3 frameshift, and one 3’ UTR) in HNF1A and 4 different mutations (2 missense, one frameshift, and one indel) in HNF1B were found. Thirty-tree, 5, and 2 mutations were detected as novel mutations in GCK, HNF1A, and HNF1B genes, respectively.
Definition of molecular etiology in MODY patients is important for giving appropriate genetic counseling and disease management. The most commonly affected gene has been found to be GCK gene among the MODY patients studied. In the genes GCK, HNF1A, and HNF1B, 40 mutations have been defined for the first time in this study.
(P-57)
MEN 2A Family
Zafer Pekkolay, Hikmet Soylu, Belma Özlem Tural Balsak, Mehmet Güven, Alpaslan Kemal Tuzcu
Dicle University Faculty of Medicine, Department of Adult Endocrinology, Diyarbakr, Turkey
MEN 2 is a rare genetic disorder with autosomal dominant inheritance. Here, we present a family in which MEN2A was detected in the index case and two brothers had detected pheochromocytoma and medullary thyroid cancer.
MEN 2A index case;
23
J Clin Res Pediatr Endocrinol 2017;9(Supplement 1):1-31
were significantly higher. A bilateral adrenal mass was detected and bilateral surrenalectomy was performed. Plasma calcitonin level was high. A hypoechoic, coarse calcific thyroid nodule was detected. The patient underwent total thyroidectomy and neck dissection. The parathormone (PTH) level was normal. The RET mutation was positive in the patient. It was decided to screen the family. Second case: A 50-year-old male patient was called for MEN 2A family screening. Bilateral adrenal mass was detected. Bilateral surrenalectomy was performed. Calcitonin level of 267 pg/mL was detected. Hypoactive thyroid nodule aspiration was reported as AUS. Total thyroidectomy and central neck dissection were applied to the patient. Cranial involvement was also observed in the PET/CT scan for metastasis. A mass in the left cerebellum (hemangioblastoma?) was detected in brain MR. Third case: A forty-six-year-old female patient was evaluated; a mass with size of 56x64x50 mm in the left adrenal and normal right adrenal were detected. Metanephrine and normetanephrine were significantly high in the urine. Calcitonin level was significantly high. Firm thyroid nodule was detected. PTH was normal. Left adrenalectomy and total thyroidectomy were planned. The patient refused to be treated.
MEN 2A syndrome is the most common medullary thyroid cancer. Bilateral pheochromocytoma is common. Hyperparathyroidism is observed in 20-30% of patients.
(P-58)
Investigation of Androgen Receptor Gen Mutation Spectrum in the Turkish Patients with Disorder of Sex Development
Hüseyin Onay1, Samim Özen2, Tuba Sözen Türk1, ükran Darcan2, Tahir Atik3, Ahmet Ank4, Oya Ercan5, Olcay Evliyaolu5, Gönül Çatl, Filiz Hazan6, Ayhan Abac7
1Ege University Faculty of Medicine, Department of Medical Genetics, zmir, Turkey
2Ege University Faculty of Medicine, Division of Pediatric Endocrinology, zmir, Turkey
3Ege University Faculty of Medicine, Department of Pediatric Genetics, zmir, Turkey
4Adnan Menderes University Faculty of Medicine, Division of Pediatric Endocrinology, Aydn, Turkey
5stanbul University Cerrahpaa Faculty of Medicine, Division of Pediatric Endocrinology, stanbul, Turkey
6zmir Dr. Behçet Uz Children’s Hospital, Clinic of Medical Genetics, zmir, Turkey
7Dokuz Eylül University Faculty of Medicine, Division of Pediatric Endocrinology, zmir, Turkey
Androgen insensitivity syndrome (AIS) is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally 46,XY individuals.
This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function. Mutations in the AR gene on chromosome Xq12 cause AIS. In this study, we aimed to investigate the mutation spectrum in Turkish patients who had AR mutation analysis with suspected gender development disorder and AR insensitivity syndrome.
The AR gene from the DNA material isolated from the peripheral blood of patients was amplified using appropriate primers and sequenced using the new-generation sequence analysis technique on the Mi-Seq device.
In this study, molecular analysis results of 383 individuals who underwent AR genetic analysis in Ege University Medical Genetics Department between 2011 and 2016 were evaluated retrospectively. There were 44 mutations in these cases. Of the 44 cases detected in the mutation, 16 were affected and the karyotype was 46,XY. 28 of them are the 46,XX carrier mothers, carrier relatives, or siblings of the affected cases.
New mutations were detected in our studies between 2011 and 2016-L57Q, T576I, D691Y, P672R, Q739E, p.R544KfsX8, c.1745_1747delTCT, F726S, L881V, R102G, and L863F. Different mutations can be detected in AR gene in Turkish society. In cases with disorder of sex development, AR should be examined.
(P-59)
Asl Ece Solmaz, Ayça Aykut, Asude Durmaz
Ege University Faculty of Medicine, Department of Medical Genetics, zmir, Turkey
Pituitary gland insufficiency (hypopituitarism) is a clinical condition that results in inadequate production and release of pituitary hormones. The deficiency of one or more pituitary hormones is named partial hypopituitarism and the deficiency of all pituitary hormones is named panhypopituitarism. Hypopituitarism can be attributed to inherited or acquired causes. Our aim was to determine the molecular diagnosis in our panhypopituitarism patient with HESX1 gene sequence analysis.
gene mutations (4 missense: p.T93M, p.R352W, p.Y432C, p.E448K; 2 nonsense: p.W151X, p.Q259X; and one splice site: c.831+1G>C) were detected. p.T93M was the most frequent (57% of all alleles) mutation. Two of the seven mutations (p.Q259X, c.831+1G>C) were defined for the first time in this study.
This study defines the mutation spectrum and genotype phenotype correlation of DHCR7 gene within the Turkish SLOS patients. As seen in other Mediterranean populations, p.T93M mutation was the most frequent mutation observed in our patients.
(P-55)
Esra Ik1, ükran Darcan2, Ayenur Kavasolu3, Tahir Atik1, Hüseyin Onay3, Damla Göken imek2, Asude Durmaz3, Ayça Aykut3, Özgür Çoulu1, Ferda Özknay1
1Ege University Faculty of Medicine, Division of Pediatric Genetics, zmir, Turkey
2Ege University Faculty of Medicine, Division of Pediatric Endocrinology, zmir, Turkey
3Ege University Faculty of Medicine, Department of Medical Genetics, zmir, Turkey
Achondroplasia is the most common reason of inherited disproportionate short statue. It is caused by mutations in the FGFR3 (fibroblast growth factor receptor-3) gene. In this study, we aimed to evaluate the anthropometric measurements and complications in achondroplasia patients.
In this study, using Sanger sequencing or next-generation sequence analysis, FGFR3 gene mutations were detected in 29 patients (achondroplasia/hypochondroplasia: 15/14) between 2012 and 2016. Nine of the 15 achondroplasia patients and one of the 14 hypochondroplasia patients had been followed by both Pediatric Genetics and Pediatric Endocrinology Subdivisions of Ege University Medical Faculty. Fifty percent of patients were female and 50% were male. Median age was 27 months (min 9-max 96 months). Anthropometric measurements of the patients were found to be in normal ranges using growth curves specific for achondroplasia patients reported by Horton et al. When evaluated according to normal growth curves, mean standard deviations of height, weight, and head circumference were -4.45 (±1.59), -1.38 (±1.15), and 1.99 (±1.20), respectively. In one patient, foramen magnum stenosis and cervicospinal junction compression were observed. Another patient had mental retardation and epilepsy.
It has been considered that growth of achondroplasia patients can be maintained in the limits of achondroplasia patients when appropriate follow-up is performed. They should be carefully evaluated for neurological and orthopedic complications.
(P-56)
Mutation Spectrum of GCK, HNF1A, and HNF1B in MODY Patients and 40 Novel Mutations
Ferda Özknay, Esra Ik, Damla Göken imsek, Ayça Aykut, Emin Karaca, Samim Özen, Hilmi Bolat, Tahir Atik, Hüseyin Onay
Ege University Faculty of Medicine, Division of Pediatric Genetics, zmir, Turkey
MODY (maturity onset diabetes of the young) is a monogenic diabetes mellitus caused by pancreatic beta cell dysfunction. It has been classified into 9 groups according to the underlying molecular etiology. Mutations in the genes encoding the nuclear transcription factor 1 homeobox A (HNF1A) and the enzyme glucokinase (GCK) are the most common causes of MODY. Additionally, HNF1B gene is responsible for 5% of the disease. The aim of this study was to investigate the mutation spectrum of GCK, HNF1A, and HNF1B genes in MODY patients.
Molecular test results of 152 patients carrying mutations in GCK, HNF1A, or HNF1B genes were evaluated. Rate of mutations detected in GCKL, HNF1A, and HNF1B genes were 84%, 13%, and 3%, respectively. Fifty-seven different mutations (40 missense, 8 nonsense, 7 frameshift, 1 in-frame deletion, and one splice site) in GCK, 15 different mutations (11 missense, 3 frameshift, and one 3’ UTR) in HNF1A and 4 different mutations (2 missense, one frameshift, and one indel) in HNF1B were found. Thirty-tree, 5, and 2 mutations were detected as novel mutations in GCK, HNF1A, and HNF1B genes, respectively.
Definition of molecular etiology in MODY patients is important for giving appropriate genetic counseling and disease management. The most commonly affected gene has been found to be GCK gene among the MODY patients studied. In the genes GCK, HNF1A, and HNF1B, 40 mutations have been defined for the first time in this study.
(P-57)
MEN 2A Family
Zafer Pekkolay, Hikmet Soylu, Belma Özlem Tural Balsak, Mehmet Güven, Alpaslan Kemal Tuzcu
Dicle University Faculty of Medicine, Department of Adult Endocrinology, Diyarbakr, Turkey
MEN 2 is a rare genetic disorder with autosomal dominant inheritance. Here, we present a family in which MEN2A was detected in the index case and two brothers had detected pheochromocytoma and medullary thyroid cancer.
MEN 2A index case;
23
J Clin Res Pediatr Endocrinol 2017;9(Supplement 1):1-31
were significantly higher. A bilateral adrenal mass was detected and bilateral surrenalectomy was performed. Plasma calcitonin level was high. A hypoechoic, coarse calcific thyroid nodule was detected. The patient underwent total thyroidectomy and neck dissection. The parathormone (PTH) level was normal. The RET mutation was positive in the patient. It was decided to screen the family. Second case: A 50-year-old male patient was called for MEN 2A family screening. Bilateral adrenal mass was detected. Bilateral surrenalectomy was performed. Calcitonin level of 267 pg/mL was detected. Hypoactive thyroid nodule aspiration was reported as AUS. Total thyroidectomy and central neck dissection were applied to the patient. Cranial involvement was also observed in the PET/CT scan for metastasis. A mass in the left cerebellum (hemangioblastoma?) was detected in brain MR. Third case: A forty-six-year-old female patient was evaluated; a mass with size of 56x64x50 mm in the left adrenal and normal right adrenal were detected. Metanephrine and normetanephrine were significantly high in the urine. Calcitonin level was significantly high. Firm thyroid nodule was detected. PTH was normal. Left adrenalectomy and total thyroidectomy were planned. The patient refused to be treated.
MEN 2A syndrome is the most common medullary thyroid cancer. Bilateral pheochromocytoma is common. Hyperparathyroidism is observed in 20-30% of patients.
(P-58)
Investigation of Androgen Receptor Gen Mutation Spectrum in the Turkish Patients with Disorder of Sex Development
Hüseyin Onay1, Samim Özen2, Tuba Sözen Türk1, ükran Darcan2, Tahir Atik3, Ahmet Ank4, Oya Ercan5, Olcay Evliyaolu5, Gönül Çatl, Filiz Hazan6, Ayhan Abac7
1Ege University Faculty of Medicine, Department of Medical Genetics, zmir, Turkey
2Ege University Faculty of Medicine, Division of Pediatric Endocrinology, zmir, Turkey
3Ege University Faculty of Medicine, Department of Pediatric Genetics, zmir, Turkey
4Adnan Menderes University Faculty of Medicine, Division of Pediatric Endocrinology, Aydn, Turkey
5stanbul University Cerrahpaa Faculty of Medicine, Division of Pediatric Endocrinology, stanbul, Turkey
6zmir Dr. Behçet Uz Children’s Hospital, Clinic of Medical Genetics, zmir, Turkey
7Dokuz Eylül University Faculty of Medicine, Division of Pediatric Endocrinology, zmir, Turkey
Androgen insensitivity syndrome (AIS) is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally 46,XY individuals.
This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function. Mutations in the AR gene on chromosome Xq12 cause AIS. In this study, we aimed to investigate the mutation spectrum in Turkish patients who had AR mutation analysis with suspected gender development disorder and AR insensitivity syndrome.
The AR gene from the DNA material isolated from the peripheral blood of patients was amplified using appropriate primers and sequenced using the new-generation sequence analysis technique on the Mi-Seq device.
In this study, molecular analysis results of 383 individuals who underwent AR genetic analysis in Ege University Medical Genetics Department between 2011 and 2016 were evaluated retrospectively. There were 44 mutations in these cases. Of the 44 cases detected in the mutation, 16 were affected and the karyotype was 46,XY. 28 of them are the 46,XX carrier mothers, carrier relatives, or siblings of the affected cases.
New mutations were detected in our studies between 2011 and 2016-L57Q, T576I, D691Y, P672R, Q739E, p.R544KfsX8, c.1745_1747delTCT, F726S, L881V, R102G, and L863F. Different mutations can be detected in AR gene in Turkish society. In cases with disorder of sex development, AR should be examined.
(P-59)
Asl Ece Solmaz, Ayça Aykut, Asude Durmaz
Ege University Faculty of Medicine, Department of Medical Genetics, zmir, Turkey
Pituitary gland insufficiency (hypopituitarism) is a clinical condition that results in inadequate production and release of pituitary hormones. The deficiency of one or more pituitary hormones is named partial hypopituitarism and the deficiency of all pituitary hormones is named panhypopituitarism. Hypopituitarism can be attributed to inherited or acquired causes. Our aim was to determine the molecular diagnosis in our panhypopituitarism patient with HESX1 gene sequence analysis.
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